Breast cancer genomes discovery paves way for personalised treatment

In what is being described as a major breakthrough, a team of researchers has uncovered five genes that lead to the development of breast cancer, paving the way for future personalised treatment.

Breast cancer breakthroughs appear to be coming thick and fast in the last few months, both in Ireland and the UK.

And now, a team from the UK’s Wellcome Trust Sanger Institute led by Dr Serena Nik-Zainal has published a paper in Nature that details the discovery of five new genes associated with breast cancer, as well as 13 new mutational signatures that influence a tumour’s development.

The discovery was made following an international collaboration that drew from 560 genomes from breast cancer patients across Asia, Europe and the US and reveals for the first time that a patient’s breast cancer genomes can vary wildly depending on the individual.

During the early stages of research, the team began by looking for the mutations within the genomes that encourage the cancer to grow, while also determining what each patient’s mutational signature might be.

‘First large-scale view of the rest of the genome’

When analysing women who carried either the BRCA1 or BRCA2 gene, which indicate an increased likelihood of developing breast cancer, the patients’ cancer genome profiles were shown to be radically different.

Having sequenced the genetic information using advanced computational techniques, one of the collaborators on the project, Dr Ewan Birney from the European Bioinformatics Institute, said of the findings: “For years we have been trying to figure out if parts of DNA that don’t code for anything specific have a role in driving cancer development.

“This study both gave us the first large-scale view of the rest of the genome, uncovering some new reasons why breast cancer arises, and gave us an unexpected way to characterise the types of mutations that happen in certain breast cancers.”